Abstract

Genetic testing using DNA is quick, cheap and easy.
<br>Clinical assessment of the affected individual, and documentation of the pedigree (family history), should be the starting
point for all diagnostic genetic testing as this will define which gene/s the laboratory should study.
<br>Owing to the complexity of this type of testing, laboratories might have to screen many genes for mutations, or might
only test a small number of known common mutations rather than offer a single test for each disorder.
<br>It is therefore important to be aware that different laboratories use different methods and do different tests. Often different
laboratories have to be used for different tests.
<br>The National Health Laboratory Service (NHLS) is a good starting point for referrals, although they do not test for every
genetic condition, but would have a good national and international referral network.
<br>Genetic testing is by no means ready for prime time yet, so it is suggested that only testing known to have clinical benefit
should be offered to the general public right now.